Positive Control: human COL11A2-transfected 293T cells (N-terminal fragment of COL11A2 isoform 1)
Predicted Reactivity: Mouse (85%), Rat (85%), Bovine (93%)
Store product as a concentrated solution. Centrifuge briefly prior to opening the vial.
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6.
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Protein Aliases: Collagen alpha-2(XI) chain; collagen, type XI, alpha 2; DAQB-79P13.8; HGNC:2187; pro-a2 chain of collagen type XI; procollagen, type XI, alpha 2; type XI collagen alpha2 chain
Gene Aliases: COL11A2; DFNA13; DFNB53; FBCG2; HKE5; PARP; STL3